Gene Symbol | GDF6 |
Entrez Gene ID | 392255 |
Full Name | growth differentiation factor 6 |
Synonyms | BMP-13,BMP13,CDMP2,KFM,KFS,KFS1,KFSL,SGM1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]. |
Disorder MIM: | |
Disorder Html: | Klippel-Feil syndrome 1, autosomal dominant, 118100 (3); Microphthalmia, isolated 4, 613094 (3); Microphthalmia with coloboma 6, digenic, 613703 (3); Leber congenital amaurosis 17, 615360 (3) |